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RPL3L ribosomal protein L3 like [ Homo sapiens (human) ]

Gene ID: 6123, updated on 2-Nov-2024

Summary

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Official Symbol
RPL3Lprovided by HGNC
Official Full Name
ribosomal protein L3 likeprovided by HGNC
Primary source
HGNC:HGNC:10351
See related
Ensembl:ENSG00000140986 MIM:617416; AllianceGenome:HGNC:10351
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMD2D
Summary
This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in heart (RPKM 32.1), prostate (RPKM 5.1) and 2 other tissues See more
Orthologs
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Genomic context

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See RPL3L in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1943974..1954689, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1963946..1975094, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1993975..2004690, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1961835-1962392 Neighboring gene heparan sulfate-glucosamine 3-sulfotransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1968509-1969070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1969071-1969634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1969635-1970196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1970197-1970760 Neighboring gene Sharpr-MPRA regulatory region 1858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1991100-1991989 Neighboring gene uncharacterized LOC124903625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7010 Neighboring gene methionine sulfoxide reductase B1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2003405-2004394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2007755-2008596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2012172-2013117 Neighboring gene NADH:ubiquinone oxidoreductase subunit B10 Neighboring gene small nucleolar RNA, H/ACA box 10 Neighboring gene ribosomal protein S2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach. Bajpai AK, et al. Genes (Basel), 2023 Dec 29. PMID 38254943, Free PMC Article
  2. A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal dominant polycystic kidney disease gene region. Van Raay TJ, et al. Genomics, 1996 Oct 15. PMID 8921388
  3. Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. Burn TC, et al. Genome Res, 1996 Jun. PMID 8828041
  4. C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. Mohanan V, et al. Science, 2018 Mar 9. PMID 29420262, Free PMC Article
  5. Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control. Mazumder B, et al. Cell, 2003 Oct 17. PMID 14567916

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach.
    Title: Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach.
  2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cardiomyopathy, dilated, 2D
MedGen: C5543535 OMIM: 619371 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of myotube differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of cytosolic large ribosomal subunit HDA PubMed 
part_of cytosolic large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in ribosome TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
ribosomal protein uL3-like
Names
60S ribosomal protein L3-like
large ribosomal subunit protein uL3-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005061.3 → NP_005052.1  ribosomal protein uL3-like

    See identical proteins and their annotated locations for NP_005052.1

    Status: REVIEWED

    Source sequence(s)
    AC005363
    Consensus CDS
    CCDS10450.1
    UniProtKB/Swiss-Prot
    Q92901
    UniProtKB/TrEMBL
    B2R7Y3
    Related
    ENSP00000268661.7, ENST00000268661.8
    Conserved Domains (1) summary
    PTZ00103
    Location:1 → 398
    PTZ00103; 60S ribosomal protein L3; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1943974..1954689 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522571.3 → XP_011520873.1  ribosomal protein uL3-like isoform X1

    UniProtKB/TrEMBL
    B2R7Y3
    Conserved Domains (2) summary
    PTZ00103
    Location:6 → 403
    PTZ00103; 60S ribosomal protein L3; Provisional
    cl00324
    Location:12 → 378
    RplC; Ribosomal protein L3 [Translation, ribosomal structure and biogenesis]

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791799.1 Reference GRCh38.p14 PATCHES

    Range
    10122..21271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333186.1 → XP_054189161.1  ribosomal protein uL3-like isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1963946..1975094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313574.1 → XP_054169549.1  ribosomal protein uL3-like isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92901.3 GenPept UniProtKB/Swiss-Prot:Q92901

Gene LinkOut

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